Is Abnormal mRNA Processing Responsible for the Low Percentage of Variants at Residue 27 of the HumanαChain?
作者:
SchroederW. A.,
期刊:
Hemoglobin
(Taylor Available online 1985)
卷期:
Volume 9,
issue 6
页码: 609-612
ISSN:0363-0269
年代: 1985
DOI:10.3109/03630268508997041
出版商: Taylor&Francis
数据来源: Taylor
摘要:
Mutants of theαchain commonly are present to the extent of 20-25% of a heterozygote's hemoglobin. A major exception is Hb Fort Worth (α227(β8)Glu→Glyβ2) which was first identified in a Black family by Schneideret al.(1) and has now been reported by Carstairset al.(2) in a second Black family. In all heterozygotes, this variant accounts for only 4-5% of the total hemoglobin. As Carstairset al.note,“The reason for the low quantity of Hb Fort Worth in heterozygotes (4-5%) remains unclear.”Perhaps, in a manner analogous to Hb E, abnormal mRNA processing may be responsible.
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